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    Drugs & Diseases > Neurology

    Torsion Dystonias Clinical Presentation

    Updated: Feb 15, 2016
    • Author: Priyantha Herath, MD, PhD; Chief Editor: Selim R Benbadis, MD  more...
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    Presentation

    History

    When evaluation a patient with what appears to be a dystonic syndrome, the following history should be documented:

    • Age of onset

    • Initial site of involvement and progression to other body sites and time course of progression

    • Occurrence of dystonia at rest, with any specific voluntary action, or posture maintenance

    • Presence or absence of tremor or other movement disorders

    • Presence or absence of a sensory trick, or geste antagoniste [52]

    • A family history of similar symptoms or other involuntary movements, the age of onset of similar symptoms, and body part predominantly affected

    • Previous therapeutic trial and response to low-dose levodopa, to exclude dopamine-responsive dystonia

    • Any secondary etiologies, such as trauma, infectious process, birth injury, or developmental delay

    • Exposure to any medications reported to cause dystonia, such as levodopa, dopamine agonists, antipsychotics, neuroleptics, dopamine-blocking agents, metoclopramide, fenfluramine, flecainide, ergot agents, anticonvulsive agents, and certain calcium channel blockers

    • Other complaints associated with the dystonic symptoms

    • Pain, which is not usually a prominent feature except in some cases of cervical dystonia and other forms of secondary dystonia (eg, reflex sympathetic dystrophy and foot dystonia occurring with Parkinson disease)

    • Aggravating or attenuating factors

    • Degree of functional impairment resulting from the dystonia

    • Additional questions about the following may help in determining if dystonia is affecting other body parts (such involvement might not be otherwise volunteered):

      • Increased blinking

      • Intermittent puckering of the mouth

      • Chewing movements

      • Tongue popping

      • Stuttering

      • Difficulty speaking

      • Becoming breathless when speaking with a soft voice

      • Turning, tilting, or shifting of the head in any direction

      • Jerking of the head

      • Twisting of the body

      • Tremors of the hands or feet, arms, or legs

      • Twisting or moving involuntarily when using hands or walking

      • Difficulty with writing

      • History of clumsiness

      • Cramps when using the hands or legs

      • Toes going up or down involuntarily or being pigeon toed

    Next:

    Physical

    It is important to note the distribution of body parts affected. Although classification of the distribution is arbitrary, it may serve as a useful guide in clinical practice and may help in grouping families and patients for clinical trials and genetic studies.

    Distributions are classified as follows:

    • Focal (single body region)

    • Segmental (2 or more contiguous regions)

    • Multifocal (2 or more noncontiguous regions)

    • Hemidystonia (involving one side of the body)

    • Generalized (leg, trunk, and one other region or both legs with or without trunk involvement plus 1 other region)

    The central features that distinguish dystonia from other involuntary movement disorders are the posture-assuming features or directional quality and patterned predictable involvement of a specific set of muscles involved.

    Although the pattern of muscle contractions in dystonia is consistent and predictable, involuntary movements vary with changing postures or tasks.

    The site of involvement may remain focal or progress to involve other parts of the body over time.

    The speed of dystonic contractions may be rapid or slow.

    Various sensory tricks may be performed that diminish the dystonic movements, termed geste antagoniste.

    Dystonic movements intensify with voluntary action. Movements of primary dystonia commonly occur with specific actions and are not present at rest. As the dystonic condition progresses, relatively nonspecific voluntary actions can bring out the dystonic movements. With still further worsening, the affected limb can develop dystonic movements while at rest, and the patient eventually develops sustained posturing.

    Irregular, rhythmic contractions termed dystonia tremors may be observed. The tremor is irregular compared to the tremor seen in essential tremor.

    Facial muscles are affected, as manifested by patterned and sustained contractions of the forehead, eyelids, and lower face. Limbs may be affected as well, and specific voluntary tasks may intensify such contractions. Examples are writing when the upper extremities are affected and walking forward but not backward when lower extremities are affected.

    It is important to note other physical and abnormal neurologic findings in addition to the dystonia.

    Previous
    Next:

    Causes

    Dystonia has historically been classified into 2 main etiologic groups: primary (idiopathic) and secondary (symptomatic). [1] Idiopathic dystonia was distinguished from the symptomatic dystonias both by its lack of known cause and the absence of consistent brain pathology. However, it has become clearer that idiopathic dystonia consists of a group of clinical syndromes that are likely to have a genetic basis. Primary dystonia is a genetically heterogeneous disease. [17, 18] . Currently, 25 DYT loci are recognized and dystonia forms are labeled DYT in the order they were discovered; 20 are inherited as autosomal dominant, 4 are inherited as autosomal recessive, and 1 (dystonia parkinsonism) is an X-linked recessive trait. [19, 51]

    Table 2 below lists the genetic loci for dystonia.

    Table. (Open Table in a new window)

    Type Designation Mode of Inheritance Gene Gene Locus OMIM#

    DYT1

    		 Early-onset generalized Autosomal dominant TOR1A 9q.34.11 128100
    DYT2 Early-onset generalized Autosomal recessive Uknown Uknown 224500
    DYT3 X-linked dystonia parkinsonism (Lubag syndrome) X-chromosomal recessive TAF1 Xq13.1 314250
    DYT4 Torsion dystonia (Whispering dysphonia) Autosomal dominant TUBB4A 19p13.3 128101
    DYT5a Dopa-responsive dystonia (Segawa disease) Autosomal dominant GCH1 14q22.1–22.2 128230
    DYT5b Dopa-responsive dystonia Autosomal recessive TH 11p15.5 605407
    DYT6 Adolescent-onset mixed phenotype Autosomal dominant THAP1 8p11.21 602629
    DYT7 Paroxysmal dystonic choreoathetosis Autosomal dominant Unknown 18p 602124
    DYT8 Paroxysmal kinesigenic, nonkinesigenic dyskinesia Autosomal dominant MR-1 2q33–35 118800
    DYT9 Paroxysmal choreoathetosis with spasticity Autosomal dominant CSE 1p 601042
    DYT10 Paroxysmal kinesigenic dystonia Autosomal dominant PRRT2 16q11.2–12.1 128200
    DYT11 Myoclonus dystonia Autosomal dominant SGCE 7q21.3 159900
    DYT11 Myoclonus dystonia Autosomal dominant DRD2 11q23.2 159900
    DYT12 Rapid-onset dystonia parkinsonism (syndrome) Autosomal dominant ATP1A3 19q12–13.2 128235
    DYT13 Early- and late-onset focal or craniocervical dystonia Autosomal dominant Unknown 1p36.32-p36.13 607671
    DYT14 Dopa-responsive generalized dystonia        
    DYT15 Myoclonus-dystonia Autosomal dominant Unknown 18p11 607488
    DYT16 Dystonia-parkinsonism syndrome Autosomal recessive PRKRA 2q31.2 612067
    DYT17 Adolescent onset Autosomal recessive Unknown 20p11.2-q13.12 612406
    DYT18 Paroxysmal exertion-induced dyskinesia Autosomal dominant SLC2A1 1p34.2 612126
    DYT19 Paroxysmal kinesigenic dyskinesia 2 Autosomal dominant Unknown 16q13-q22.1 611031
    DYT20 Paroxysmal nonkinesigenic dyskinesia 2 Autosomal dominant Unknown 2q31 611147
    DYT21 Late-onset torsion dystonia Autosomal dominant Unknown 2q14.3-q21.3 614588
    DYT22     Unknown Unknown Not listed
    DYT23 Adult-onset cervical dystonia Autosomal dominant CIZ1 9q34 614860
    DYT24 Focal dystonia Autosomal dominant ANO3 11p14.2 615034
    DYT25 Adult-onset focal dystonia Autosomal dominant GNAL 18p11.21 615073

    Table. (Open Table in a new window)

    Primary dystonia

    • Idiopathic or primary torsion dystonia: Despite a negative family history, a genetic basis for dystonia is not ruled out completely, as its mode of inheritance is usually autosomal dominant with incomplete penetrance.

    • Sporadic and familial torsion dystonia (various genetic forms; see Table 2)

    • Inherited (ie, hereditary) dystonia (various genetic forms; see Table 2)

    Secondary dystonia

    Trauma

    • Head trauma

    • Peripheral trauma

    • Space-occupying lesions in the brain

    Drugs

    • Levodopa, dopamine agonists, antipsychotics, metoclopramide, fenfluramine, flecainide, ergot agents, anticonvulsant agents, certain calcium channel blockers

    Toxins

    • Manganese, carbon monoxide, carbon disulfide, methanol, disulfiram, wasp sting

    Metabolic conditions

    • Kernicterus

    • Amino acid disorders

    • Glutaric acidemia

    • Methylmalonic acidemia

    • Homocystinuria

    • Hartnup disease

    • Tyrosinosis

    • Lipid disorders

    • Metachromatic leukodystrophy

    • Neuronal ceroid lipofuscinosis

    • Dystonic lipidoses - Niemann-Pick disease, type C (ie, sea blue histiocytosis)

    • Primary antiphospholipid antibody syndrome

    • Gangliosidoses (ie, GM1, GM2)

    • Mitochondrial encephalopathies (eg, Leigh disease, Leber disease)

    • Lesch-Nyhan syndrome

    • Triosephosphate isomerase deficiency [26]

    • Vitamin E deficiency

    • Biopterin deficiency

    Genetic factors

    • Dystonia plus syndromes

    • Myoclonus dystonia

    • Dopa-responsive dystonia (DRD)

    • Rapid-onset dystonia parkinsonism

    • Lubag or X-linked dystonia parkinsonism

    Neurodegenerative conditions

    Demyelination

    Other structural conditions

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